long case with NAM

shm is a 4 year old maly boy, eldest of 4 siblings from nonconsanguiouse marriage. Both parents are 30 years old, from relatively big family with no known medical illness. father is a factory worker and mother is a house wife.

shm is electively admitted today for micturition cystourethrogram. he has quite a few no of problems to discuss.

1. hearing imppairment.
he was born in HUSM, full term with good birth weight of 2.99Kg, no evidence of intrauterine infection the pregnancy was uneventful with . he was admitted for observation , he cried immediately but since does not look active. how ever does not suggest for asphyxia since cried immediatelyt and no other complication related to it. was admitted for observation and developed jaundice, given phototherapy. for jaundice it was 7 days admition but mother is not sure of the highest SB level. But I presume that it was not so high since mother was not informed about possible exchange. ther was no risk of sepsis, and parents are not sure of any antibiotics given during the 7 day stay to cause ototoxicity.


this hearing impairment is complicated with speech imppairement as well. initially able to count 1-10, A-Z, name few colors.

no h/o mumps or head injury.

S was hearing well till 3 years where by mother noted child having on off fever with upper respiratory infections for about 2 months, how ever there was no ear discharge, no headache, behavioural changes and no seizures. with speech impairment.

there is no associated visual problem,

currently for the hearing the child is been given bilateral hearing aids. But even with that child is barely able to hear and is not compliant to it making the speech delay more difficult to improve. the child is not yet been treated in speeech therapy

2, the second problem is hypothyroidsm,
Since it was found that child having sensoneuronal deafnesss, he was investigated for thyroid as well and noted to be hypothyroid. he was started on L-thyroxine (?dose) and is compliant to medication. he has some featured of hypothyroidsm such as weight loss and delayed cognitive functions but this could be related to anemia. other wise he is euthyroid.

3rd problem is anemia. he has bveen transfused once during last admition though it is less common to have an anemia which is so low in hypothyroidsm still it could be due to that. there is no family history of thalassemia, mother was anemic during pregnancy without requiring transfusion, nutritionally child is taking orally well. not choosy eater, likes milk, meat and egg as well. he was breast fed exclusively for 5 months and continued for 2 years. there is no history of worm infection, malena or vomiting. no history of eating picca.

sh is alert child moving aorund in the ward without support. he does not look dysmorphic. growth paraeters are all below 3rd percentile, which shows failure to gain weight after 3 years. he is waring bilateral hearing aids. there is no white forlock hair. there is pallor, no jaundice, no peripheral edema, no neck swelling.
eyes no cataract. iris has no heteroochromia. no coloboma.
testis bl descended. no vertebral anomalies, no genital anomalies.
pulses 100 beats per minute, regular. (may need an ECG to look for short QT syndrome)

the distraction test is non respoding, there is no structural anomalies, no wax, ear drum is intact without inflammation. the face looks normal. no mid line defects. since it is profound hearing impairment with all these mostprobably it is sensorineural deafness how ever i would like to see results of formal hearing assessment .